Mutagenetix > Incidental Mutation

Incidental Mutation 'R5644:Trpm8'

440917

Institutional Source

Beutler Lab

Gene Symbol

Trpm8

Ensembl Gene

ENSMUSG00000036251

Gene Name

transient receptor potential cation channel, subfamily M, member 8

Synonyms

Trp-p8, TRPP8, CMR1

MMRRC Submission

043292-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88234457-88318909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88287461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 815 (F815I)

Ref Sequence

ENSEMBL: ENSMUSP00000131209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040210] [ENSMUST00000113114] [ENSMUST00000171176]

AlphaFold

Q8R4D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040210
AA Change: F815I

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: F815I

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
transmembrane domain	693	712	N/A	INTRINSIC
transmembrane domain	724	758	N/A	INTRINSIC
Pfam:Ion_trans	769	979	4.7e-10	PFAM
low complexity region	1026	1036	N/A	INTRINSIC
coiled coil region	1069	1104	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113114
AA Change: F815I

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: F815I

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
transmembrane domain	693	712	N/A	INTRINSIC
transmembrane domain	724	758	N/A	INTRINSIC
Pfam:Ion_trans	769	979	4.7e-10	PFAM
low complexity region	1026	1036	N/A	INTRINSIC
coiled coil region	1069	1104	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171176
AA Change: F815I

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: F815I

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
transmembrane domain	693	712	N/A	INTRINSIC
transmembrane domain	724	758	N/A	INTRINSIC
transmembrane domain	763	780	N/A	INTRINSIC
transmembrane domain	793	815	N/A	INTRINSIC
transmembrane domain	825	847	N/A	INTRINSIC
transmembrane domain	867	889	N/A	INTRINSIC
transmembrane domain	954	976	N/A	INTRINSIC
low complexity region	1026	1036	N/A	INTRINSIC
coiled coil region	1069	1104	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to cold and reduced response to cold stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,308,678 (GRCm39)	D805E	probably damaging	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384 (GRCm39)	V559F	probably damaging	Het
Apba2	A	G	7: 64,365,259 (GRCm39)	T346A	probably benign	Het
Arhgap10	C	T	8: 78,137,684 (GRCm39)	M302I	probably benign	Het
Asah1	G	T	8: 41,813,332 (GRCm39)	T27K	possibly damaging	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Cacna1a	A	G	8: 85,189,406 (GRCm39)	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Ccar1	T	C	10: 62,607,757 (GRCm39)	N302S	probably benign	Het
Ccdc93	A	G	1: 121,411,065 (GRCm39)	H446R	probably benign	Het
Cct6b	A	T	11: 82,613,281 (GRCm39)	L420Q	probably benign	Het
Cemip	T	C	7: 83,638,392 (GRCm39)	T273A	probably benign	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cfap221	A	G	1: 119,860,532 (GRCm39)	L698P	probably damaging	Het
Cfap43	T	A	19: 47,784,114 (GRCm39)	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,311,326 (GRCm39)	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,604,138 (GRCm39)	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,546,302 (GRCm39)	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,580,138 (GRCm39)	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dpp8	G	A	9: 64,953,017 (GRCm39)	W231*	probably null	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Fgd6	T	A	10: 93,969,912 (GRCm39)	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,666,409 (GRCm39)	Y875N	probably damaging	Het
Gaa	T	A	11: 119,171,361 (GRCm39)	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,450,138 (GRCm39)	D52G	probably damaging	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gpam	A	T	19: 55,077,331 (GRCm39)	D153E	probably benign	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,783,517 (GRCm39)	V297D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,680 (GRCm39)	S107T	possibly damaging	Het
Kif12	T	A	4: 63,084,130 (GRCm39)	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,322,939 (GRCm39)	D660G	probably damaging	Het
Klf13	T	C	7: 63,541,308 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lao1	T	A	4: 118,822,433 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lyst	A	T	13: 13,812,081 (GRCm39)	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,820,839 (GRCm39)	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mrgprb5	G	A	7: 47,817,955 (GRCm39)	T260I	probably benign	Het
Mybpc2	T	C	7: 44,156,477 (GRCm39)	T825A	probably benign	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Naalad2	G	T	9: 18,246,227 (GRCm39)	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,167,916 (GRCm39)	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,257,993 (GRCm39)	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or5ae1	C	A	7: 84,565,327 (GRCm39)	F113L	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or5p58	A	T	7: 107,694,011 (GRCm39)	Y255*	probably null	Het
Or5p60	A	G	7: 107,723,858 (GRCm39)	F204S	probably benign	Het
Or6c2	A	T	10: 129,362,972 (GRCm39)	N292I	probably damaging	Het
Or6c76b	T	A	10: 129,693,296 (GRCm39)	V303E	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
P2ry12	A	T	3: 59,125,516 (GRCm39)	M53K	possibly damaging	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,028,619 (GRCm39)	S175P	probably benign	Het
Pgbd1	A	G	13: 21,607,322 (GRCm39)	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Pramel16	C	T	4: 143,675,374 (GRCm39)	G484D	probably benign	Het
Prkcd	C	A	14: 30,329,370 (GRCm39)	K23N	probably benign	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rad54l	C	T	4: 115,956,144 (GRCm39)	S561N	probably benign	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Rtl1	C	T	12: 109,558,013 (GRCm39)	M1275I	probably benign	Het
Ryr2	C	A	13: 11,610,468 (GRCm39)	E4119D	probably damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562 (GRCm39)	T8S	probably benign	Het
Slc22a30	T	C	19: 8,381,980 (GRCm39)	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Smc6	T	A	12: 11,339,995 (GRCm39)	N434K	probably benign	Het
Snap91	G	T	9: 86,672,206 (GRCm39)		probably null	Het
Srsf10	T	C	4: 135,591,131 (GRCm39)	S194P	possibly damaging	Het
St14	T	C	9: 31,017,806 (GRCm39)	M205V	probably benign	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,182,435 (GRCm39)	D163V	probably benign	Het
Trim15	T	C	17: 37,177,713 (GRCm39)	E94G	probably damaging	Het
Trit1	T	C	4: 122,942,965 (GRCm39)	I279T	probably damaging	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,574,204 (GRCm39)	D446E	probably benign	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,403,194 (GRCm39)	L550P	probably damaging	Het

Other mutations in Trpm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Trpm8	APN	1	88,307,549 (GRCm39)	missense	possibly damaging	0.82
IGL01387:Trpm8	APN	1	88,271,009 (GRCm39)	missense	probably damaging	1.00
IGL01933:Trpm8	APN	1	88,254,127 (GRCm39)	missense	probably damaging	0.98
IGL02075:Trpm8	APN	1	88,253,210 (GRCm39)	missense	probably damaging	1.00
IGL02184:Trpm8	APN	1	88,258,416 (GRCm39)	critical splice acceptor site	probably null
IGL02342:Trpm8	APN	1	88,255,972 (GRCm39)	missense	possibly damaging	0.58
IGL02416:Trpm8	APN	1	88,288,438 (GRCm39)	missense	probably damaging	1.00
IGL02696:Trpm8	APN	1	88,275,773 (GRCm39)	missense	probably damaging	1.00
IGL02807:Trpm8	APN	1	88,275,830 (GRCm39)	missense	probably damaging	1.00
R0078:Trpm8	UTSW	1	88,255,870 (GRCm39)	splice site	probably benign
R1183:Trpm8	UTSW	1	88,275,813 (GRCm39)	missense	probably damaging	1.00
R1608:Trpm8	UTSW	1	88,254,154 (GRCm39)	missense	probably benign
R1713:Trpm8	UTSW	1	88,292,802 (GRCm39)	missense	probably damaging	1.00
R1724:Trpm8	UTSW	1	88,278,578 (GRCm39)	missense	possibly damaging	0.86
R1966:Trpm8	UTSW	1	88,260,470 (GRCm39)	splice site	probably null
R2089:Trpm8	UTSW	1	88,271,048 (GRCm39)	missense	probably damaging	0.99
R2091:Trpm8	UTSW	1	88,271,048 (GRCm39)	missense	probably damaging	0.99
R2091:Trpm8	UTSW	1	88,271,048 (GRCm39)	missense	probably damaging	0.99
R2384:Trpm8	UTSW	1	88,287,378 (GRCm39)	missense	probably benign	0.00
R2475:Trpm8	UTSW	1	88,282,171 (GRCm39)	missense	probably damaging	1.00
R3726:Trpm8	UTSW	1	88,255,918 (GRCm39)	missense	probably benign	0.00
R3745:Trpm8	UTSW	1	88,276,049 (GRCm39)	missense	probably benign	0.21
R4063:Trpm8	UTSW	1	88,289,727 (GRCm39)	missense	probably damaging	1.00
R4678:Trpm8	UTSW	1	88,264,851 (GRCm39)	missense	probably benign	0.07
R4681:Trpm8	UTSW	1	88,312,427 (GRCm39)	missense	possibly damaging	0.63
R5031:Trpm8	UTSW	1	88,275,910 (GRCm39)	missense	probably benign	0.00
R5620:Trpm8	UTSW	1	88,287,373 (GRCm39)	critical splice acceptor site	probably null
R5734:Trpm8	UTSW	1	88,283,002 (GRCm39)	missense	probably benign	0.01
R5839:Trpm8	UTSW	1	88,253,228 (GRCm39)	missense	possibly damaging	0.57
R5844:Trpm8	UTSW	1	88,312,433 (GRCm39)	makesense	probably null
R5845:Trpm8	UTSW	1	88,255,902 (GRCm39)	missense	probably benign	0.00
R5926:Trpm8	UTSW	1	88,258,469 (GRCm39)	missense	probably damaging	0.99
R5940:Trpm8	UTSW	1	88,279,137 (GRCm39)	nonsense	probably null
R6031:Trpm8	UTSW	1	88,282,191 (GRCm39)	missense	possibly damaging	0.95
R6031:Trpm8	UTSW	1	88,282,191 (GRCm39)	missense	possibly damaging	0.95
R6088:Trpm8	UTSW	1	88,234,400 (GRCm39)	start gained	probably benign
R6283:Trpm8	UTSW	1	88,276,054 (GRCm39)	missense	probably benign	0.09
R6299:Trpm8	UTSW	1	88,282,201 (GRCm39)	missense	probably damaging	1.00
R6367:Trpm8	UTSW	1	88,287,405 (GRCm39)	missense	probably damaging	1.00
R6526:Trpm8	UTSW	1	88,289,720 (GRCm39)	missense	probably damaging	0.98
R6682:Trpm8	UTSW	1	88,254,224 (GRCm39)	missense	probably damaging	0.96
R6751:Trpm8	UTSW	1	88,312,428 (GRCm39)	missense	possibly damaging	0.63
R7057:Trpm8	UTSW	1	88,289,802 (GRCm39)	missense	probably null	0.99
R7489:Trpm8	UTSW	1	88,307,481 (GRCm39)	missense	possibly damaging	0.85
R7520:Trpm8	UTSW	1	88,271,043 (GRCm39)	missense	probably benign	0.00
R7597:Trpm8	UTSW	1	88,255,918 (GRCm39)	missense	probably damaging	0.97
R7774:Trpm8	UTSW	1	88,258,563 (GRCm39)	missense	probably damaging	0.99
R7839:Trpm8	UTSW	1	88,254,176 (GRCm39)	missense	possibly damaging	0.83
R7948:Trpm8	UTSW	1	88,302,091 (GRCm39)	nonsense	probably null
R8176:Trpm8	UTSW	1	88,292,837 (GRCm39)	missense	probably benign	0.06
R8222:Trpm8	UTSW	1	88,253,390 (GRCm39)	splice site	probably null
R8946:Trpm8	UTSW	1	88,276,061 (GRCm39)	splice site	probably benign
R9121:Trpm8	UTSW	1	88,312,423 (GRCm39)	missense	probably benign	0.17
R9290:Trpm8	UTSW	1	88,246,767 (GRCm39)	missense	probably damaging	1.00
R9564:Trpm8	UTSW	1	88,254,158 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TAGGGCTCCCTTGACACAAAC -3'
(R):5'- AAATTTTCAAGAACCCAGAGTGAGG -3'

Sequencing Primer
(F):5'- ACAGTCTCAGAAGTGTCCTGG -3'
(R):5'- GAGAAACTTATGGTGGCCAAGTTGTG -3'

Posted On

2016-11-08